Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration and eventual death. The disorder is caused by a mutation in the dystrophin gene, located on the human X chromosome, which codes for the protein dystrophin, an important structural component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. Dystrophin links the internal cytoplasmic actin filament network and extracellular matrix, providing physical strength to muscle fibers. Accordingly, alteration or absence of dystrophin results in abnormal sarcolemmal membrane function. While persons of both sexes can carry the mutation, boys typically have a severe phenotype with early disability and mortality, whereas females carrying a mutation typically exhibit a much milder phenotype.
Presently, there is no known cure for DMD. Many therapeutic avenues have been investigated including gene therapy and various administration protocols of corticosteroids. While some of these treatments may delay certain signs and symptoms, there is presently no satisfactory therapeutic option for DMD patients.